All Stories

  1. Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

    Article • European Journal of Paediatric Neurology, September 2015, Elsevier

    Dr Claudia Castiglioni

  2. Toward an objective measure of functional disability in dysferlinopathy

    Article • Muscle & Nerve, May 2015, Wiley

    Dr Claudia Castiglioni

  3. Enfermedades neuromusculares en el adolescente. síntomas y signos clínicos orientadores al diagnóstico

    Article • Revista Médica Clínica Las Condes, January 2015, Elsevier

    Dr Claudia Castiglioni

  4. Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

    Article • Muscle & Nerve, October 2014, Wiley

    Dr Claudia Castiglioni

  5. ActivatingPIK3CAsomatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity

    Article • American Journal of Medical Genetics Part A, June 2014, Wiley

    Dr Claudia Castiglioni

  6. PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins

    Article • European Journal of Paediatric Neurology, May 2013, Elsevier

    Dr Claudia Castiglioni

  7. Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes

    Article • Revista médica de Chile, February 2011, SciELO Comision Nacional de Investigacion Cientifica Y Tecnologica (CONICYT)

    Dr Claudia Castiglioni

  8. Síndrome de Satoyoshi: Enfermedad multisistémica con respuesta exitosa a tratamiento esteroidal

    Article • Revista médica de Chile, April 2009, SciELO Comision Nacional de Investigacion Cientifica Y Tecnologica (CONICYT)

    Dr Claudia Castiglioni

  9. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

    Article • Human Mutation, February 2008, Wiley

    Dr Claudia Castiglioni

  10. McLeod myopathy revisted – More neurogenic and less benign

    Article • Clinical Neurophysiology, January 2008, Elsevier

    Dr Claudia Castiglioni

  11. Aripiprazole en el tratamiento sintomático del síndrome de Gilíes de la Tourette (enfermedad de los tics)

    Article • Revista médica de Chile, June 2007, SciELO Comision Nacional de Investigacion Cientifica Y Tecnologica (CONICYT)

    Dr Claudia Castiglioni

  12. Phenotypic variability of a distinct deletion in McLeod syndrome

    Article • Movement Disorders, January 2007, Wiley

    Dr Claudia Castiglioni

  13. Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena

    Article • Revista médica de Chile, November 2006, SciELO Comision Nacional de Investigacion Cientifica Y Tecnologica (CONICYT)

    Dr Claudia Castiglioni